Hydroxyurea in the management of sickle cell disease: pharmacogenomics and enzymatic metabolism

被引：25

作者：

Modeste Alexandre Yahouedehou, Setondji Cocou ^{[1
,2
]}

Adorno, Elisangela Vitoria ^{[2
]}

da Guarda, Caroline Conceicao ^{[1
]}

Ndidi, Uche Samuel ^{[1
]}

Carvalho, Suellen Pinheiro ^{[1
,2
]}

Santiago, Rayra Pereira ^{[1
]}

Aleluia, Milena Magalhaes ^{[1
]}

de Oliveira, Rodrigo Mota ^{[1
,2
]}

Goncalves, Marilda de Souza ^{[1
,2
]}

机构：

[1] Fiocruz MS, IGM, LIGHT, Salvador, BA, Brazil

[2] Univ Fed Bahia, Fac Farm, LPA, Dept Anal Clin, Salvador, BA, Brazil

来源：

PHARMACOGENOMICS JOURNAL | 2018年 / 18卷 / 06期

关键词：

FETAL-HEMOGLOBIN RESPONSE; BETA-THALASSEMIA; NITRIC-OXIDE; PROMOTER POLYMORPHISMS; GENE-EXPRESSION; BILIRUBIN RESPONSE; ANEMIA PATIENTS; KLF10; GENE; THERAPY; TRANSPORTER;

D O I：

10.1038/s41397-018-0045-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hydroxyurea (HU) was approved to be used in the treatment of sickle cell disease (SCD) because of its anti-sickling potential. However, there is variability in HU response among SCD patients and this can be due to physiological, socioeconomic, environmental, metabolic and/or genetic factors. The present review focuses on the latter two. Three quantitative trait loci, HBG2, BCL11A and HMIP, have been suggested as important markers for HU response. Other genes (ASS1, KLF10, HAO2, MAP3K5, PDE7B, TOX, NOS1, NOS2A, FLT1, ARG1, ARG2, UGT1A1, OR51B5/6, SIN3A, SALL2, SAR1A, UTB, OCTN1, CYP2C9, AQP9, MPO, CYP2E1, and GSTT1) have also been considered. Studies implicate catalase, urease, horseradish peroxidase and enzymes of CYP450 family in HU metabolism. However, little is known about these enzymes. Therefore, further studies are needed to elucidate the metabolic pathway of HU, which will facilitate pharmacogenomic studies and help in identification of candidate genes for predicting HU response.

引用

页码：730 / 739

页数：10

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